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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

HK1 Gene

protein-coding GIFtS: 67
GCID: GC10P071031

hexokinase 1

Explore 30 diseases affiliated with
HK1 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Hexokinase 1¹ ²		HK1-Tc¹
Brain Form Hexokinase² ³		HKI²
Hexokinase Type I² ³		HXK1²
HK I² ³		Glycolytic Enzyme²
EC 2.7.1.1³ ⁸		Hexokinase-1¹
HK1-Ta¹		EC 2.7.1⁸
HK1-Tb¹

External Ids:	HGNC: 4922¹	Entrez Gene: 3098²	Ensembl: ENSG00000156515⁷	OMIM: 142600⁵	UniProtKB: P19367³

Export aliases for HK1 gene to outside databases

Previous GC identifers: GC10P069840 GC10P070116 GC10P070922 GC10P070374 GC10P070699 GC10P065029

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for HK1:

Hexokinases phosphorylate glucose to produce glucose-6-phosphate, the first step in most glucose metabolism pathways.

This gene encodes a ubiquitous form of hexokinase which localizes to the outer membrane of mitochondria. Mutations in

this gene have been associated with hemolytic anemia due to hexokinase deficiency. Alternative splicing of this gene

results in five transcript variants which encode different isoforms, some of which are tissue-specific. Each isoform

has a distinct N-terminus; the remainder of the protein is identical among all the isoforms. A sixth transcript

variant has been described, but due to the presence of several stop codons, it is not thought to encode a protein.

(provided by RefSeq, Apr 2009)

summary for HK1:

Mitochondrial Hexokinases catalyze the first essential step of glucose metabolism, the conversion of glucose

into glucose-6-phosphate. This directly couples extramitochondrial glycolysis to intramitochondrial

oxidative phosphorylation. There are two subtypes of mitochondrial hexokinases, HK1 and HK2, each of which

has four isozymes designated hexokinase I, II, III and IV. HK1 and HK2 are both localized to the outer

mitochondrial membrane, with HK1 being found in nervous tissue and HK2 in insulin-responsive tissues such as

skeletal muscle. Activation of mitochondrial hexokinases is regulated by Akt/PKB-mediated phosphorylation

and they are subject to inhibiton by their end product, glucose-6-phosphate. In addition to glucose

metabolism, mitochondrial hexokinases have been implicated in antiapoptotic and cell survival signaling.

Gene Wiki entry for HK1

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000010.10 NC_018921.1 NT_030059.13

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the HK1 gene promoter:
Max1 HNF-4alpha1 c-Myc
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): HK1 promoter sequence

Search SABiosciences Chromatin IP Primers for HK1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat HK1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 10q22 Ensembl cytogenetic band: 10q22.1 HGNC cytogenetic band: 10q22

HK1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HK1 gene location

GeneLoc information about chromosome 10 GeneLoc Exon Structure

GeneLoc location for GC10P071031: view genomic region (about GC identifiers)

Start:	71,029,740 bp from pter	End:	71,161,638 bp from pter
Size:	131,899 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: HXK1_HUMAN, P19367 (See protein sequence)

Recommended Name: Hexokinase-1

Size: 917 amino acids; 102486 Da

Subunit: Monomer

Subcellular location: Mitochondrion outer membrane. Note=Its hydrophobic N-terminal sequence may be involved in

membrane binding

Miscellaneous: In vertebrates there are four major glucose-phosphorylating isoenzymes, designated hexokinase I, II, III

and IV (glucokinase)

5 PDB 3D structures from and Proteopedia for HK1:

1CZA (3D)

1DGK (3D)

1HKB (3D)

1HKC (3D)

1QHA (3D)

Secondary accessions: E9PCK0 O43443 O43444 O75574 Q5VTC3 Q96HC8 Q9NNZ4 Q9NNZ5

Alternative splicing: 4 isoforms: P19367-1 P19367-2 P19367-3 P19367-4

Explore the universe of human proteins at neXtProt for HK1: NX_P19367

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P19367

4/42 DME Specific Peptides for HK1 (P19367) (see all 42)

DIRTEFD

EWGAFGD

TMMTCGY

DCVSVQH

HK1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (5 alternative transcripts):

NP_000179.2 NP_277031.1 NP_277032.1 NP_277033.1 NP_277035.2

ENSEMBL proteins:

ENSP00000409761 ENSP00000398316 ENSP00000415949 ENSP00000352398 ENSP00000402103

ENSP00000384774 ENSP00000353433 ENSP00000298649

Reactome Protein details: P19367
Human Recombinant Protein Products:

	Browse Purified and Recombinant Proteins at EMD Millipore
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	OriGene Purified Protein: HK1 OriGene Protein Over-expression Lysate: HK1 OriGene Custom Protein Services for HK1
	GenScript Custom Purified and Recombinant Proteins Services for HK1
	Novus Biologicals HK1 Proteins Novus Biologicals HK1 Lysates
	Browse Sino Biological Recombinant Proteins
	ProSpec Recombinant Protein for HK1
	Uscn Proteins for HK1

Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	IDA	--
GO:0005730	NOT nucleolus	IDA	--
GO:0005739	mitochondrion	IDA	--
GO:0005741	mitochondrial outer membrane	IEA	--
GO:0005829	cytosol	TAS	--

HK1 for ontologies About GeneDecksing

HK1 Antibody Products:

	EMD Millipore Mono- and Polyclonal Antibodies for the study of HK1
	Browse R&D Systems for Antibodies
	Cell Signaling Technology (CST) Antibodies for HK1
	Browse OriGene Antibodies OriGene Custom Antibody Services for HK1
	GenScript Superior Antibodies for HK1
	Novus Biologicals HK1 Antibodies
	Abcam antibodies for HK1
	Uscn Antibodies for HK1
	ThermoFisher Antibody for HK1

Assay Products for HK1:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for HK1
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for HK1

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

HK1 for domains About GeneDecksing

4 InterPro domains/families:

IPR019807 Hexokinase_CS

IPR001312 Hexokinase

IPR022672 Hexokinase_N

IPR022673 Hexokinase_C

Graphical View of Domain Structure for InterPro Entry P19367

ProtoNet protein and cluster: P19367

1 Blocks protein family: IPB001312 Hexokinase

UniProtKB/Swiss-Prot: HXK1_HUMAN, P19367

Domain: The N- and C-terminal halves of this hexokinase show extensive sequence similarity to each other. The catalytic

activity is associated with the C-terminus while regulatory function is associated with the N-terminus. Each domain

can bind a single glucose and Gluc-6-P molecule

Similarity: Belongs to the hexokinase family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: HXK1_HUMAN, P19367

Catalytic activity: ATP + D-hexose = ADP + D-hexose 6-phosphate

Enzyme regulation: Hexokinase is an allosteric enzyme inhibited by its product Glc-6-P

Genatlas biochemistry entry for HK1:

hexokinase 1,108kDa,glycolysis and gluconeogenesis,energy pathway,red blood specific with two isoforms HK1,universally

expressed,and an erythroid specific isoform AXR derived from the HK1 gene by the alternate use of a specific promoter

and an alternative splicing

Enzyme Numbers (IUBMB): EC 2.7.1.1¹ ² EC 2.7.1²

miRNA Products:		OriGene 3'-UTR Clone (see all 5): HK1 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat HK1
		8/31 QIAGEN miScript miRNA Assays for microRNAs that regulate HK1 (see all 31):
		hsa-miR-520e hsa-miR-302d hsa-miR-520d-5p hsa-miR-4288 hsa-miR-632 hsa-miR-4299 hsa-miR-302e hsa-miR-449a

		SwitchGear 3'UTR luciferase reporter plasmid: HK1 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for HK1 (see all 7) OriGene shRNA RFP: HK1 OriGene siRNA: HK1
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat HK1

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for HK1

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for HK1 (see all 8) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for HK1 (see all 5) OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 5): HK1 (NM_033496)
		Browse Sino Biological Human cDNA Clones
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for HK1
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HK1

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for HK1
		Search LifeMap BioReagents cell lines for HK1

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HK1

Gene Ontology (GO): 5/8 molecular function terms (GO ID links to tree view) (see all 8): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004340	glucokinase activity	IBA	--
GO:0004396	hexokinase activity	TAS	3207429
GO:0005515	protein binding	IPI	--
GO:0005524	ATP binding	IEA	--
GO:0008865	fructokinase activity	IBA	--

HK1 for ontologies About GeneDecksing

Animal Models:
8 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Hk1):

growth/size	hematopoietic system	homeostasis/metabolism	immune system	integument
liver/biliary system	renal/urinary system	reproductive system

HK1 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/16 super-pathways (see all 16) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Galactose metabolism

Galactose metabolism	1.00	Glycogen metabolism	0.40
Galactose metabolism	0.95	Glycogen metabolism	0.40
Galactose metabolism	0.47

Glycolysis and gluconeogenesis (short map)

	Glycolysis and gluconeogenesis (short map)	1.00			Glycolysis and Gluconeogenesis	0.60
	Glycolysis and gluconeogenesis (short map)	0.97			Glycolysis / Gluconeogenesis	0.41

SLC-mediated transmembrane transport

SLC-mediated transmembrane transport

1.00

Transmembrane transport of small molecules

0.50

Glucuronidation

Glucuronidation

1.00

Starch and sucrose metabolism

0.42

Metabolism

Metabolism

1.00

Metabolic pathways

0.38

Pathway sources
See GeneCards unified pathways
Show all pathways

3 EMD Millipore Pathways for HK1

	Glycogen metabolism
	Glycolysis and gluconeogenesis (short map)
	Galactose metabolism

1 Cell Signaling Technology (CST) Pathway for HK1

Glucose / Energy Metabolism

3 GeneGo (Thomson Reuters) Pathways for HK1

	Galactose metabolism
	Glycogen metabolism
	Glycolysis and gluconeogenesis (short map)

3 BioSystems Pathways for HK1

	Glucuronidation
	Glycolysis and Gluconeogenesis
	HIF-1-alpha transcription factor network

5/6 Reactome Pathways for HK1 (see all 6)

	Metabolism of carbohydrates
	SLC-mediated transmembrane transport
	Transmembrane transport of small molecules
	Hexose transport
	Metabolism

1 PharmGKB Pathway for HK1

Pentose Phosphate Pathway (Erythrocyte)

5/10 Kegg Pathways (Kegg details for HK1) (see all 10):

	Glycolysis / Gluconeogenesis
	Fructose and mannose metabolism
	Galactose metabolism
	Starch and sucrose metabolism
	Amino sugar and nucleotide sugar metabolism

UniProtKB/Swiss-Prot: HXK1_HUMAN, P19367

Pathway: Carbohydrate metabolism; hexose metabolism

HK1 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for HK1

5/249 Interacting proteins for HK1 (P19367^{1, 2, 3}) via UniProtKB, MINT, STRING, and/or I2D (see all 249)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
VDAC1	P21796¹^,²^,³	EBI-713162,EBI-354158 MINT-8079030 I2D: score=1
ENO2	P09104²^,³	MINT-63432 I2D: score=4
SCMH1	Q96GD3²^,³	MINT-63526 I2D: score=4
ICT1	Q14197²^,³	MINT-8079030 I2D: score=1
C12orf44	Q9BSB4³	I2D: score=3

About this table

Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (see all 8): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001678	cellular glucose homeostasis	IBA	--
GO:0005975	carbohydrate metabolic process	TAS	--
GO:0006096	glycolysis	IBA	--
GO:0008645	hexose transport	TAS	--
GO:0015758	glucose transport	TAS	--

HK1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

HK1 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Compounds for HK1 available from Tocris Bioscience About this table

Compound	Action	CAS #
Lonidamine	Mitochondrial hexokinase inhibitor	[50264-69-2]

8 HMDB Compounds for HK1 About this table

Compound	Synonyms	CAS #	PubMed Ids
Alpha-D-Glucose	Hexopyranose (see all 11)	492-62-6	--
Beta-D-Glucose	b-D-Glucopyranose (see all 8)	492-61-5	--
D-Fructose	Beta-d-arabino-hexulose (see all 16)	53188-23-1	--
D-Glucose	(+)-Glucose (see all 23)	50-99-7	--
D-Mannose	DL-mannose (see all 13)	3458-28-4	--
Glucosamine	2-Amino-2-deoxy-D-glucopyranose (see all 10)	3416-24-8	--
Glucose 6-phosphate	D(+)-Glucopyranose 6-phosphate (see all 11)	56-73-5	--
Mannose 6-phosphate	D-Mannose 6-phosphate (see all 10)	3672-15-9	--

4 DrugBank Compounds for HK1 About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Adenosine-5'-Diphosphate	--	20398-34-9	target	--	17139284 17016423
Alpha-D-Glucose-6-Phosphate	--	--	target	--	17139284 17016423
Beta-D-Glucose	--	50-99-7	target	--	17139284 17016423
Phosphoaminophosphonic Acid-Adenylate Ester	--	--	target	--	17139284 17016423

10/22 Novoseek chemical compound relationships for HK1 gene (see all 22) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
glucose 6-phosphate	82.7	53	16166083 (7), 10531306 (5), 17949503 (4), 9493266 (3) (see all 19)
glucose	68.5	82	12690200 (3), 9493266 (3), 8446591 (2), 9735292 (2) (see all 38)
glycogen	52.8	15	18165236 (3), 8798601 (3), 10438462 (1), 9486162 (1)
atp	51.7	17	9422720 (3), 10574795 (2), 8855953 (2), 8215417 (1) (see all 9)
18f fluorodeoxyglucose	48.1	8	15509640 (4), 18695903 (2)
mgatp	47.3	2	15724432 (1)
digitonin	46.5	1	7683206 (1)
pyruvate	42.5	4	10438462 (1), 9215806 (1), 9166680 (1)
2-deoxyglucose	37.6	1	16555088 (1)
dextran	31	3	7683206 (1)

Search CenterWatch for drugs/clinical trials and news about HK1 / HXK1

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for HK1 gene (5 alternative transcripts):

NM_000188.2 NM_033496.2 NM_033497.2 NM_033498.2 NM_033500.2

Unigene Cluster for HK1:

Hexokinase 1

Hs.370365 [show with all ESTs]

Unigene Representative Sequence: AK128226

18/20 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 20):

ENST00000450646 ENST00000464803 ENST00000480047(uc009xqc.1) ENST00000483077

ENST00000479594 ENST00000476368 ENST00000483054 ENST00000488644 ENST00000421088

ENST00000436817 ENST00000359426(uc009xqd.3 uc001jpl.4) ENST00000493591

ENST00000494253 ENST00000467704 ENST00000467710 ENST00000470050 ENST00000448642(uc001jpj.4)

ENST00000404387

miRNA Products:		OriGene 3'-UTR Clone (see all 5): HK1 Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat HK1
		8/31 QIAGEN miScript miRNA Assays for microRNAs that regulate HK1 (see all 31):
		hsa-miR-520e hsa-miR-302d hsa-miR-520d-5p hsa-miR-4288 hsa-miR-632 hsa-miR-4299 hsa-miR-302e hsa-miR-449a

		SwitchGear 3'UTR luciferase reporter plasmid: HK1 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for HK1 (see all 7) OriGene shRNA RFP: HK1 OriGene siRNA: HK1
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat HK1

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for HK1 (see all 8) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for HK1 (see all 5) OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 5): HK1 (NM_033496)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for HK1
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HK1

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for HK1 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat HK1
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat HK1
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat HK1

Additional cDNA sequence:

AB209526.1 AF073786.2 AK091267.1 AK128226.1 AK292012.1 AK294428.1 AK309904.1 BC008730.2

BC128210.1 M75126.1 U38226.1 U38227.1 U38228.1 X66957.1

20 DOTS entries:

DT.100663278 DT.452205 DT.100030671 DT.100663271 DT.100663265 DT.91762069 DT.97779307 DT.99995823

DT.100707784 DT.91762076 DT.100030669 DT.97820459 DT.95373800 DT.95373803 DT.85104252 DT.91762074

DT.91762077 DT.95373795 DT.95373797 DT.97806338

24/553 AceView cDNA sequences (see all 553):

H91904 AF073786 BX350362 BM706046 BE464637 BU732947 BU944818 BU625055

BX376699 BI861726 AW515702 BM989033 BF724887 CO247669 BM662827 AA316819

AI247723 AW517413 CA421700 NM_033498 BM781706 BI089718 BQ932996 BU627267

GeneLoc Exon Structure

5/6 Alternative Splicing Database (ASD) splice patterns (SP) for HK1 (see all 6) About this scheme

ExUns:	1	^	2	^	3a	·	3b	^	4	^	5	^	6	^	7	^	8	^	9	^	10	^	11	^	12	^	13	^	14a	·	14b	^	15	^	16	^	17	^	18	^	19	^	20	^	21	^	22	^	23	^	24	^
SP1:					-		-										-		-		-		-		-
SP2:																									-
SP3:			-										-				-
SP4:																							-		-
SP5:													-

ExUns:	25	^	26	^	27	^	28	^	29
SP1:
SP2:
SP3:
SP4:
SP5:

ECgene alternative splicing isoforms for HK1

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

HK1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GTTTGATTTT

About this image

HK1 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

1 LifeMap In Vivo Development Anatomical Compartment/Cell

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Brain

Choroid Plexus

Mature Choroid Plexus Cells

Choroid Plexus

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See HK1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for HK1

SOURCE GeneReport for Unigene cluster: Hs.370365

UniProtKB/Swiss-Prot: HXK1_HUMAN, P19367

Tissue specificity: Isoform 2 is erythrocyte specific. Isoform 3 and isoform 4 are testis-specific

SABiosciences Custom PCR Arrays for HK1

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for HK1 Browse OriGene validated miRNA SYBR primer pairs
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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of eukaryotes.

Orthologs for HK1 gene from 8/30 species (see all 30) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Details
chicken (Gallus gallus)	Aves	HK1¹	hexokinase 1	79.28(n) 88.05(a)	373889 NM_204101.1 NP_989432.1
African clawed frog (Xenopus laevis)	Amphibia	hk1-A²	hexokinase I	76.07(n)	AF288471.1
zebrafish (Danio rerio)	Actinopterygii	BC048065.1²	--	77.67(n)	BC048065.1
fruit fly (Drosophila melanogaster)	Insecta	Hex-A³ Hex-t2¹	hexokinase³ CG32849-PA¹	46(a) (best of 4)³ 53.27(n)¹ 45.43(a)¹	1 8E10³ 43191¹ NM_170272.2¹ NP_733151.2¹
worm (Caenorhabditis elegans)	Secernentea	F14B4.2³	hexokinase	46(a) (best of 3)	I(9279949-9281838) --
baker's yeast (Saccharomyces cerevisiae)	Saccharomycetes	HXK2¹	Hxk2p	47.18(n) 38.36(a)	852639 NP_011261.1
thale cress (Arabidopsis thaliana)	eudicotyledons	HKL1¹	hexokinase	46.79(n) 37.98(a)	841468 NM_103929.3 NP_175463.1
rice (Oryza sativa)	Liliopsida	Os01g0940100¹	hypothetical protein	48.87(n) 39.81(a)	4326516 NM_001051889.1 NP_001045354.1

ENSEMBL Gene Tree for HK1 (if available)
TreeFam Gene Tree for HK1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for HK1 gene

HK3² HK2² HKDC1² GCK²

10 SIMAP similar genes for HK1 using alignment to 5 protein entries: HXK1_HUMAN (see all proteins):

HK1-tb HKDC1 DKFZp686M1669 HK2 L3MBTL2 GCK

HK3 ETFA HK1-tc RHBDD3

HK1 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 10 pos	Sequence	#	AA Chg	Type	More	#	Pop	Total sample
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs77763824^1,2	C,F,	--	65027617(+)	`AGATTG/ATAAAC`	4	--	us2k¹ int¹		1	WA	118
rs57947216^1,2	C,	--	65027674(+)	`TGCCAT/CTCCTA`	3	--	us2k¹		3	WA NA	240
rs113843605^1,2	C,	--	65027885(+)	`TTTTTA/TAAATT`	3	--	us2k¹		4	NA WA EA	360
rs57010901^1,2	C,	--	65027995(+)	`CTGCAC/ACACTG`	3	--	us2k¹		3	WA NA	240
rs75331656^1,2	C,F,	--	65028147(+)	`CTATTG/TTCATG`	3	--	us2k¹		3	WA CSA	122
rs112367431^1,2	C,	--	65028493(+)	`CTGGGG/AGGTGG`	3	--	us2k¹		1	NA	2
rs80242903^1,2	C,	--	65028625(+)	`GATGTC/TCAGAT`	3	--	us2k¹		4	NA WA EA	360
rs80043563^1,2	C,	--	65028729(+)	`TTTTAC/TACTTT`	3	--	us2k¹		4	NA WA EA	360
rs77681283^1,2	F,	--	65029213(+)	`TTTCAC/GCTTAT`	3	--	us2k¹		1	EA	120
rs76042857^1,2	C,	--	65029240(+)	`CAGTTG/AAAAAC`	3	--	us2k¹		4	NA WA EA	360

HapMap Linkage Disequilibrium report for HK1 (71029740 - 71161638 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 5 variations for HK1
3 CNVs: 85360 2877 85359
2 Indels: 85361 75302
Human Gene Mutation Database (HGMD): HK1

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

HK1 for disorders           About GeneDecksing

OMIM gene information: 142600
OMIM disorders: 235700
UniProtKB/Swiss-Prot: HXK1_HUMAN, P19367

Defects in HK1 are the cause of hexokinase deficiency (HK deficiency) [MIM:235700]. HK deficiency is a rare

autosomal recessive disease with nonspherocytic hemolytic anemia as the predominant clinical feature

20/30 diseases for HK1 (see all 30): About MalaCards

hemolytic anemia due to hexokinase deficiency hemolytic anemia anemia spina bifida

autosomal recessive disease malignant glioma hyperinsulinism diabetes mellitus

breast cancer hyperglycemia hepatocellular carcinoma cervical cancer

alzheimer's disease cervicitis thyroid cancer nasopharyngitis

neuropathy pancreatic cancer colorectal cancer thyroiditis

7 Novoseek disease relationships for HK1 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
glioma	19.6	5	18695903 (2), 10912295 (1), 8826847 (1), 7622299 (1)
primary tumor	17.6	11	15509640 (3), 19235753 (2)
tumors	12.1	21	19235753 (4), 19049977 (2), 18632830 (1), 16555088 (1)
cancer	8.36	1	19689405 (1)
metastasis	3.51	4	16841142 (1), 15509640 (1), 19235753 (1)
breast cancer	0	1	15127240 (1)
anemia	0	1	19651813 (1)

Genatlas disease: HK1

hemolytic anemia including type I with a reduced activity of HK1,found in RBC,lymphocytes,platelets,fibroblats,type II

with a decreased activity restricted to RBC

Human Genome Epidemiology (HuGE) Navigator: HK1 (35 documents)

Export disorders for HK1 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for HK1 gene, integrated from 9 sources (see all 181):
(articles sorted by number of sources associating them with HK1)

Utopia: connect your pdf to the dynamic
world of online information

Structure of the 5' region of the human hexokinase type I (HKI) gene and identification of an additional testis-specific HKI mRNA. (PubMed id 10978502)^{1, 2, 9} Andreoni F.... Magnani M. (2000)
Binding of non-catalytic ATP to human hexokinase I highlights the structural components for enzyme-membrane association control. (PubMed id 10574795)^{1, 2, 9} Rosano C.... Bolognesi M. (1999)
Regulation of hexokinase I: crystal structure of recombinant human brain hexokinase complexed with glucose and phosphate. (PubMed id 9735292)^{1, 2, 9} Aleshin A.E.... Honzatko R.B. (1998)
The mechanism of regulation of hexokinase: new insights from the crystal structure of recombinant human brain hexokinase complexed with glucose and glucose-6-phosphate. (PubMed id 9493266)^{1, 2, 9} Aleshin A.E....Honzatko R.B. (1998)
Crystal structures of mutant monomeric hexokinase I reveal multiple ADP binding sites and conformational changes relevant to allosteric regulation. (PubMed id 10686099)^{1, 2, 9} Aleshin A.E.... Honzatko R.B. (2000)
Identification of the cDNA for human red blood cell-specific hexokinase isozyme. (PubMed id 9028305)^{1, 2, 9} Murakami K. and Piomelli S. (1997)
Human hexokinase type I microheterogeneity is due to different amino- terminal sequences. (PubMed id 1985912)^{1, 2, 9} Magnani M.... Stocchi V. (1991)
Crystallization and preliminary X-ray analysis of human brain hexokinase. (PubMed id 8706938)^{1, 2, 9} Aleshin A.E.... Honatko R.B. (1996)
The DNA sequence and comparative analysis of human chromosome 10. (PubMed id 15164054)^{1, 2} Deloukas P.... Rogers J. (2004)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 3098	HGNC: 4922	AceView: HK1	Ensembl:ENSG00000156515	euGenes: HUgn3098
ECgene: HK1	Kegg: 3098	H-InvDB: HK1

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for HK1	Pharmacogenomics, SNPs, Pathways
Wikipedia	http://en.wikipedia.org/wiki/Hexokinase

Intellectual Property for HK1 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for HK1 gene:
Search GeneIP for patents involving HK1

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

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